Sunday, April 12, 2009

Della Doesn't Have Rett Syndrome...Hooray!/?


A few posts ago I wrote about some genetic testing and an MRI Della was having done. We got the results back for both tests on the same day and the news was good. First and foremost, Della does not have Rett Syndrome nor a slew of 200 other genetic syndromes associated with this specific gene mutation.

The MRI came back with no obvious problems. Needless to say it was not a plesent experience. I think the hardest part is not being able to communicate with Della, to explain to her what is happening and that it is only temporary. She was not happy to be there and she pulled out her IV twice. Not fun. Only the first half of the MRI was able to be performed because they (the hospital staff) weren't able to keep Della still. She was sedated and asleep but her little body was twitching sporadically (probably because she was so agitated beforehand). The second part of the MRI was a functional near-infrared imaging (FNIR) which measures metabolic functions. This is a very precise scan and any movement will affect the results. The anesthesiologist gave Della the maximum amount of the sedative that he was comfortable in giving her, but after 2 hours her blood pressure was beginning to fall and fluid was starting to pool in her lungs. This complication was probably due to her hypotonia (overall muscle weakness) meaning that her body just isn't strong enough to handle sedation without being intubated. Translation- Della has to repeat the FNIR under general anesthesia because she will have to have a breathing tube inserted and have a ventilator breathe for her. Yuck. We will be scheduling that soon-ish.

Her MRI results from 2007 showed an immaturity in the amount of gray matter in the brain but the MRI from 4/1/2009 shows that there has been an increase of myelin growth. This means that neural pathways have been established and these are essential in the development of language, comprehension, motivation, emotions, and connecting both hemispheres of the brain. Neural pathways also connect the brain to the nervous system which controls a lot of other functions like reactions to stimuli. Although there were no glaring problems and proof that her brain has grown, there is no test to measure how many of these pathways have been established or where they are lacking.

These results came as bittersweet and it is a very strange position to be in (emotionally speaking). Of course we are so happy that Della doesn't have Rett Syndrome, but as the neurologist over the phone, "I still can't give you an explanation of what is causing her developmental delays." Clearly something is going on, it just doesn't happen to be Rett.

Meanwhile...Della started signing "want" and "all done" spontaneously and appropriately with out anyone prompting her. She first signed "all done" when we walked into speech therapy 3 weeks ago. I tried to tell her that we weren't "all done" with speech and that, in fact, we hadn't even started our session. She didn't care to hear that. Della also signed "want" last week when her great-grandparents were visiting. Papa was holding a drink and sharing it with her. Whenever he took the drink away, she would sign that she wanted it back!

Drinking goldfish...
Curly mop...

5 comments:

Amy said...

When Tyler first started to have words some of his first were "all done" too. He would say it over and over again when he would get his haircut. That's exciting that she has even just a few words she can give you. I love her hair!

Jeri said...

this is andrew, I didnt know if you've seen this site before.
http://www.mommysavesbig.com/
danielle gets alot off that site

A.Calder said...

http://vintageairstream.com/archives1/55Bubble/55BubbleX251/index.html

Jules said...

thank goodness for blogs! i appreciate that even though i don't get to talk to you as often as i used to i can still know what is going on in your life. i must thank you for the huge laugh i had as i read your recent comment on my post! it is interesting the places life takes us!! i too wish i could have come to texas, but australia calls. i have about 3 weeks off once i get back before yo gabba starts again so i should just book a flight down and come and see you right now. i'm gonna look at flights right now. tell me the best airport to go to!

miss you lady!!

A.Calder said...

if only. No its just the exact same model. Kinda cool